Variant report

Variant	esv2830280
Chromosome Location	chr1:10700448-10743363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:594)
CpG islands
(count:5128)
Chromatin interactive
region (count:68)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:10739699-10740090	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:10739738-10739938	K562	blood:	n/a	n/a
3	ATF1	chr1:10706410-10706754	K562	blood:	n/a	n/a
4	ATF2	chr1:10739666-10740097	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:10739634-10740012	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr1:10706374-10706728	K562	blood:	n/a	n/a
7	ATF3	chr1:10711894-10712078	K562	blood:	n/a	n/a
8	ATF3	chr1:10706380-10706785	K562	blood:	n/a	n/a
9	BACH1	chr1:10709033-10709307	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:10710049-10710152	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr1:10711172-10711384	GM12878	blood:	n/a	n/a
12	BCL3	chr1:10722400-10722952	GM12878	blood:	n/a	n/a
13	BCL3	chr1:10711104-10711370	GM12878	blood:	n/a	n/a
14	BCL3	chr1:10722391-10722933	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:10701393-10701600	HepG2	liver:	n/a	n/a
16	BHLHE40	chr1:10739818-10739897	K562	blood:	n/a	n/a
17	BHLHE40	chr1:10722323-10722716	K562	blood:	n/a	n/a
18	BHLHE40	chr1:10706431-10706689	K562	blood:	n/a	n/a
19	BHLHE40	chr1:10704722-10704778	K562	blood:	n/a	n/a
20	BRCA1	chr1:10737875-10737890	HepG2	liver:	n/a	n/a
21	CBX3	chr1:10706366-10706742	K562	blood:	n/a	n/a
22	CBX3	chr1:10739625-10740024	K562	blood:	n/a	n/a
23	CEBPB	chr1:10711206-10711315	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:10706493-10706670	K562	blood:	n/a	n/a
25	CEBPB	chr1:10706494-10706643	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:10739750-10739932	K562	blood:	n/a	n/a
27	CEBPB	chr1:10706429-10706778	K562	blood:	n/a	n/a
28	CEBPB	chr1:10739719-10739976	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:10739707-10739926	K562	blood:	n/a	n/a
30	CEBPB	chr1:10706457-10706718	A549	lung:	n/a	n/a
31	CEBPB	chr1:10706393-10706782	K562	blood:	n/a	n/a
32	CEBPB	chr1:10737782-10737942	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr1:10704649-10704938	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:10706430-10706778	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:10706418-10706752	IMR90	lung:	n/a	n/a
36	CHD2	chr1:10704633-10704864	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr1:10739793-10739993	HepG2	liver:	n/a	n/a
38	CREB1	chr1:10706387-10706867	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr1:10739595-10740096	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr1:10739569-10740154	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr1:10739587-10740043	HepG2	liver:	n/a	n/a
42	CTCF	chr1:10707548-10707905	K562	blood:	n/a	n/a
43	CTCF	chr1:10707705-10707803	NHEK	skin:	n/a	n/a
44	CTCF	chr1:10700460-10700610	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr1:10739420-10739570	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr1:10742800-10742950	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr1:10706747-10706815	NHEK	skin:	n/a	n/a
48	CTCF	chr1:10739763-10739893	Lung_OC	lung:	n/a	n/a
49	CTCF	chr1:10739400-10739550	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr1:10721500-10721579	GM19239	blood:	n/a	n/a

(count:5128 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10704953-10705003	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:10732744-10732794	CMK	blood:	n/a
3	chr1:10711542-10711592	SK-N-SH_RA	brain:	n/a
4	chr1:10725571-10725621	SK-N-SH	brain:	n/a
5	chr1:10704953-10705003	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:10732744-10732794	CMK	blood:	n/a
7	chr1:10711542-10711592	SK-N-SH_RA	brain:	n/a
8	chr1:10725571-10725621	SK-N-SH	brain:	n/a
9	chr1:10735169-10735219	HRPEpiC	eye:	n/a
10	chr1:10743216-10743266	ProgFib	skin:	n/a
11	chr1:10702137-10702187	Hepatocyte	liver:	n/a
12	chr1:10732333-10732383	ovcar-3	ovarian:	n/a
13	chr1:10734693-10734743	HRE	kidney:	n/a
14	chr1:10709343-10709393	T-47D	breast:	n/a
15	chr1:10738769-10738819	BE2_C	brain:	n/a
16	chr1:10706484-10706534	SK-N-MC	brain:	n/a
17	chr1:10713944-10713994	RPTEC	kidney:	n/a
18	chr1:10723630-10723680	SK-N-SH_RA	brain:	n/a
19	chr1:10709185-10709235	HRCEpiC	kidney:	n/a
20	chr1:10709885-10709935	MCF-7	breast:	n/a
21	chr1:10738569-10738619	AG10803	skin:	n/a
22	chr1:10723174-10723224	HRPEpiC	eye:	n/a
23	chr1:10720269-10720319	H1-hESC	embryonic stem cell:	embryo
24	chr1:10711542-10711592	HEEpiC	esophagus:	n/a
25	chr1:10708091-10708141	K562	blood:	n/a
26	chr1:10709885-10709935	GM12891	blood:	n/a
27	chr1:10732519-10732569	NB4	blood:	n/a
28	chr1:10732872-10732922	HCM	heart:	n/a
29	chr1:10708003-10708053	ECC-1	luminal epithelium:	n/a
30	chr1:10714619-10714669	H1-hESC	embryonic stem cell:	embryo
31	chr1:10707953-10708003	HCT-116	colon:	n/a
32	chr1:10711457-10711507	PANC-1	pancreas:	n/a
33	chr1:10713944-10713994	HEEpiC	esophagus:	n/a
34	chr1:10732912-10732962	BE2_C	brain:	n/a
35	chr1:10710134-10710184	SKMC	muscle:	n/a
36	chr1:10709185-10709235	GM12891	blood:	n/a
37	chr1:10732912-10732962	LNCaP	prostate:	n/a
38	chr1:10725237-10725287	PrEC	prostate:	n/a
39	chr1:10723174-10723224	T-47D	breast:	n/a
40	chr1:10714701-10714751	SAEC	small airway:	n/a
41	chr1:10713944-10713994	AG10803	skin:	n/a
42	chr1:10715885-10715935	ProgFib	skin:	n/a
43	chr1:10705842-10705892	AG04449	skin:	fetal
44	chr1:10728270-10728320	HRE	kidney:	n/a
45	chr1:10738664-10738714	RPTEC	kidney:	n/a
46	chr1:10705035-10705085	NHDF-neo	bronchial:	n/a
47	chr1:10708091-10708141	GM12878	blood:	n/a
48	chr1:10724490-10724540	HUVEC	blood vessel:	n/a
49	chr1:10728270-10728320	GM12892	blood:	n/a
50	chr1:10732356-10732406	ProgFib	skin:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:10694311..10696932-chr1:10702215..10704200,2	K562	blood:
2	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
3	chr1:10736438..10738952-chr1:10740834..10743683,3	K562	blood:
4	chr1:10739997..10741906-chr1:10786836..10789661,2	MCF-7	breast:
5	chr1:10742297..10745036-chr1:10749705..10751341,3	MCF-7	breast:
6	chr1:10741683..10743188-chr1:10744761..10747734,2	MCF-7	breast:
7	chr1:10698341..10701476-chr1:10701646..10704585,3	MCF-7	breast:
8	chr1:10731829..10734631-chr1:10737455..10739630,2	K562	blood:
9	chr1:10708501..10711105-chr1:10716325..10718436,2	K562	blood:
10	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
11	chr1:10728805..10730887-chr1:10732213..10735865,3	MCF-7	breast:
12	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
13	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:
14	chr1:10709257..10711552-chr1:10722180..10724225,2	K562	blood:
15	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
16	chr1:10659595..10662178-chr1:10730395..10732793,2	MCF-7	breast:
17	chr1:10685463..10687143-chr1:10735500..10738364,2	K562	blood:
18	chr1:10738788..10740418-chr1:10744263..10746556,2	MCF-7	breast:
19	chr1:10736438..10738952-chr1:10740834..10743683,3	K562	blood:
20	chr1:10689513..10692457-chr1:10716597..10719078,2	K562	blood:
21	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
22	chr1:10703132..10705545-chr1:10711056..10713011,2	K562	blood:
23	chr1:10723769..10726210-chr1:10728292..10729827,2	MCF-7	breast:
24	chr1:10730026..10731880-chr1:10732441..10734858,2	MCF-7	breast:
25	chr1:10742610..10744196-chr1:10755434..10757046,2	K562	blood:
26	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
27	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
28	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
29	chr1:10709667..10713053-chr1:10713684..10716975,4	K562	blood:
30	chr1:10728805..10730887-chr1:10732213..10735865,3	MCF-7	breast:
31	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
32	chr1:10703132..10705545-chr1:10711056..10713011,2	K562	blood:
33	chr1:10739770..10741770-chr1:10741804..10744517,2	K562	blood:
34	chr1:10730915..10733198-chr1:10740298..10742012,2	K562	blood:
35	chr1:10732310..10734082-chr1:10748973..10751556,2	K562	blood:
36	chr1:10739929..10741898-chr1:10854079..10856532,2	MCF-7	breast:
37	chr1:10739770..10741770-chr1:10741804..10744517,2	K562	blood:
38	chr1:10708501..10711105-chr1:10716325..10718436,2	K562	blood:
39	chr1:10711257..10713486-chr1:10721428..10724018,2	MCF-7	breast:
40	chr1:10717765..10719511-chr1:10863932..10866703,2	K562	blood:
41	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
42	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
43	chr1:10731586..10734308-chr1:10735752..10737991,2	MCF-7	breast:
44	chr1:10573337..10575488-chr1:10723481..10725688,2	K562	blood:
45	chr1:10717594..10722225-chr1:10722686..10725044,4	K562	blood:
46	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
47	chr1:10722706..10724721-chr1:10733970..10736738,2	MCF-7	breast:
48	chr1:10733440..10737843-chr1:10738072..10740756,3	K562	blood:
49	chr1:10707592..10708112-chr17:41465690..41466290,3	NB4	blood:
50	chr1:10725435..10726303-chr1:10810964..10811494,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DFFA-5	chr1:10703938-10704151	uc_5_-
2	lnc-PEX14-4	chr1:10703938-10704151	uc_5_+
3	lnc-DFFA-6	chr1:10710541-10710812	NONHSAT000867
4	lnc-DFFA-6	chr1:10710998-10711157	NONHSAT000867
5	lnc-DFFA-7	chr1:10717708-10718008	uc_6_-
6	lnc-PEX14-6	chr1:10717708-10718008	uc_6_+

No data

Variant related genes	Relation type
CASZ1	TF binding region
CASZ1	CpG island
ENSG00000188825	chromatin interactions
ENSG00000130940	chromatin interactions
ENSG00000272078	chromatin interactions

Extended variants
information (count: 2098 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2098 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2128416	chr1:10700448-10700449	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs370865736	chr1:10700474-10700475	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566789631	chr1:10700495-10700496	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533744351	chr1:10700546-10700547	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374254437	chr1:10700562-10700563	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184648289	chr1:10700584-10700585	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567304579	chr1:10700585-10700586	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537534840	chr1:10700590-10700591	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35897136	chr1:10700597-10700598	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568971216	chr1:10700601-10700602	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11804446	chr1:10700617-10700618	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377276373	chr1:10700624-10700625	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34979641	chr1:10700639-10700640	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145693883	chr1:10700648-10700649	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189723273	chr1:10700669-10700670	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370414967	chr1:10700679-10700680	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540556608	chr1:10700727-10700728	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561735109	chr1:10700769-10700770	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529333108	chr1:10700770-10700771	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34920910	chr1:10700772-10700773	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs284249	chr1:10700805-10700806	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114929858	chr1:10700855-10700856	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532951152	chr1:10700873-10700874	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs180922826	chr1:10700951-10700952	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs566703768	chr1:10701026-10701027	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367777444	chr1:10701030-10701031	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527569069	chr1:10701047-10701048	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371580201	chr1:10701072-10701073	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567267952	chr1:10701207-10701208	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542590790	chr1:10701208-10701209	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537852147	chr1:10701209-10701210	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555949814	chr1:10701222-10701223	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571340716	chr1:10701276-10701277	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs185144229	chr1:10701279-10701280	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557914969	chr1:10701308-10701309	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs560845988	chr1:10701311-10701312	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs540519752	chr1:10701312-10701313	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555641386	chr1:10701337-10701338	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs284250	chr1:10701438-10701439	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544611504	chr1:10701450-10701451	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546427238	chr1:10701459-10701460	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562816160	chr1:10701473-10701474	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs537967863	chr1:10701482-10701483	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368526418	chr1:10701486-10701487	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560380340	chr1:10701524-10701525	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113452340	chr1:10701579-10701580	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs284251	chr1:10701624-10701625	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549252589	chr1:10701627-10701628	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs561247482	chr1:10701636-10701637	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531178421	chr1:10701662-10701663	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:10691600-10703000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:10691600-10706000	Weak transcription	Dnd41	blood
4	chr1:10696200-10704000	Weak transcription	HSMMtube	muscle
5	chr1:10697400-10700800	Strong transcription	Gastric	stomach
6	chr1:10697400-10722000	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:10697800-10700600	Weak transcription	Stomach Mucosa	stomach
8	chr1:10697800-10703400	Weak transcription	HMEC	breast
9	chr1:10698200-10713600	Weak transcription	Small Intestine	intestine
10	chr1:10698400-10703200	Weak transcription	NHEK	skin
11	chr1:10698600-10703000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:10698600-10705600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:10698800-10704600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:10698800-10704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:10698800-10726400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:10698800-10752000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:10699000-10701000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr1:10699000-10712400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:10699000-10713600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:10699000-10714000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:10699000-10723000	Weak transcription	Psoas Muscle	Psoas
22	chr1:10699200-10700600	Weak transcription	Right Atrium	heart
23	chr1:10699400-10701000	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr1:10699400-10702000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:10699400-10702000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:10699400-10702200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:10699400-10702200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr1:10699400-10702200	Genic enhancers	Right Ventricle	heart
29	chr1:10699400-10709600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr1:10699400-10709800	Strong transcription	Colonic Mucosa	Colon
31	chr1:10699600-10700600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:10699600-10701000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr1:10699600-10701400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr1:10699600-10702000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr1:10699600-10703400	Enhancers	Fetal Heart	heart
36	chr1:10699800-10700600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
37	chr1:10699800-10700600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr1:10699800-10700600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr1:10699800-10701000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:10699800-10701000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr1:10700000-10700600	Strong transcription	Lung	lung
42	chr1:10700000-10701000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:10700000-10701200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr1:10700000-10701200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:10700000-10701200	Enhancers	Fetal Lung	lung
46	chr1:10700000-10701600	Weak transcription	Liver	Liver
47	chr1:10700000-10701600	Genic enhancers	Esophagus	oesophagus
48	chr1:10700000-10701600	Weak transcription	Pancreas	Pancrea
49	chr1:10700000-10701800	Weak transcription	Aorta	Aorta
50	chr1:10700000-10702000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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